Hs04051464_cn

• Gene Symbol: EEF1A2
• Assay Reference Genome Location: Chr.20:63491448 on build GRCh38
• Cytoband: 20q13.33

Target Gene Details

• Entrez Gene ID: 1917
• Gene Name: eukaryotic translation elongation factor 1 alpha 2
• Gene Aliases: EEF1AL, EF-1-alpha-2, EF1A, EIEE33, HS1, MRD38, STN, STNL
• Location: Chr.20:63488012-63499315 on Build GRCh38
• Assay Gene Location: Within Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EEF1A2	NM_001958.3			NP_001949.1
	AB209064.1			BAD92301.1
	AB451389.1
	AK307536.1
	BC000432.2			AAH00432.1
	BC110409.1
	L10340.1			AAA91835.1
	X70940.1			CAA50280.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv953306	Chr.20:63151949 - 63571247 on Build GRCh38	Deletion	HELZ2 MIR4326 SRMS EEF1A2 ARFGAP1 PTK6 BIRC7 YTHDF1 LOC102723788 FLJ16779 LOC100130587 KCNQ2 NKAIN4 MIR3196 COL20A1 CHRNA4 LOC100130152 PPDPF MIR124-3 FNDC11 LOC107985425
dgv7666n54	Chr.20:63460989 - 63528151 on Build GRCh38	Loss	KCNQ2 EEF1A2 PPDPF
nsv3448	Chr.20:63488613 - 63520639 on Build GRCh38	Insertion	EEF1A2
nsv9825	Chr.20:62775470 - 63601330 on Build GRCh38	Gain	HAR1B DPH3P1 LINC00029 TCFL5 OGFR PTK6 LINC00659 BIRC7 LINC01056 YTHDF1 LOC100130587 KCNQ2 BHLHE23 MIR3196 COL20A1 LOC107985428 LOC63930 HELZ2 MIR4326 SRMS EEF1A2 DIDO1 ARFGAP1 LOC102723788 FLJ16779 MRGBP NKAIN4 GID8 GMEB2 CHRNA4 LOC100130152 SLC17A9 OGFR-AS1 PPDPF MIR124-3 FNDC11 COL9A3 LOC107985425 HAR1A
nsv586568	Chr.20:63486715 - 63502196 on Build GRCh38	Loss	EEF1A2
nsv834033	Chr.20:63421436 - 63554987 on Build GRCh38	Gain	KCNQ2 SRMS EEF1A2 PTK6 PPDPF FNDC11
nsv834034	Chr.20:63462825 - 63625901 on Build GRCh38	Loss	KCNQ2 HELZ2 GMEB2 SRMS EEF1A2 PTK6 PPDPF FNDC11
esv2758806	Chr.20:63470996 - 63745014 on Build GRCh38	Gain+Loss	ZGPAT RTEL1 STMN3 RTEL1-TNFRSF6B ARFRP1 HELZ2 LIME1 SRMS EEF1A2 SLC2A4RG PTK6 TNFRSF6B ZBTB46 KCNQ2 LOC100505771 GMEB2 PPDPF FNDC11

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

translation factor

Gene Ontology Categories:

Process(es)

translational elongation
response to inorganic substance
positive regulation of apoptotic process
response to electrical stimulus
positive regulation of lipid kinase activity
regulation of chaperone-mediated autophagy

Function(s)

translation elongation factor activity
GTPase activity
protein binding
GTP binding
translation factor activity, RNA binding
protein kinase binding